ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)

gnomAD frequency: 0.00001  dbSNP: rs1289641509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918684 SCV002182415 uncertain significance Bardet-Biedl syndrome 2021-09-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BBS10-related disease. This sequence change replaces isoleucine with phenylalanine at codon 375 of the BBS10 protein (p.Ile375Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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